汉族人群VKORC1启动子基因多态性与华法林剂量相关性研究
发布时间：2019-01-08 07:27
【摘要】： 目的:探讨在汉族人群中VKORC1启动子的基因多态性与华法林口服剂量关系。 方法:随机患者100例和从近6年在我院行人工机械瓣膜置换术后患者中筛查获得华法林耐药患者12例。抽取患者外周血,提取患者gDNA,应用相关引物PCR扩增,凝胶电泳鉴定扩增片段,对样本VKORC1启动子进行ABI3100序列分析,从而获得以上两组患者VKORC1基因多态性分布。 结果:在100例随机抽样患者中仅发现g.-1639 G＞A突变,其基因多态性分布情况为从型87例(87%),AG型13例(13%),GG型0例(0%);在12例华法林耐药的特殊患者中也发现g.-1639 G＞A突变,其基因多态性分布情况为从型4例(25%),AG型7例(67%),GG型1例(8%)。 结论:汉族人群中g.-1639G＞A突变极高,而野生纯合子极少见,可以解释汉族人群对华法林药物普遍敏感。在12例华法林耐药汉族患者中存在8例非g.-1639G＞A突变纯合子(1例GG型和7例AG型)可能是这些患者华法林耐药的原因之一,这部分患者在仅加大华法林剂量情况下,达到理想INR标准。在12例华法林耐药汉族患者中有4例g.-1639G＞A突变纯合子(AA型),这部分患者耐药与其它因素有关。
[Abstract]:Objective: to investigate the relationship between VKORC1 promoter gene polymorphism and warfarin oral dose in Han population. Methods: 100 random patients and 12 patients with warfarin resistance were selected from 6 years after valvular replacement in our hospital. The peripheral blood of the patients was extracted and the gDNA, was amplified by PCR with the relevant primers. The amplified fragments were identified by gel electrophoresis, and the ABI3100 sequence of the VKORC1 promoter was analyzed to obtain the distribution of VKORC1 gene polymorphism in the above two groups. Results: only the mutation of g.-1639G > A was found in 100 random sampling patients. The gene polymorphism was found in 87 cases (87%) of), AG type (13 cases) (13% of), GG type 0 cases (0%). In 12 patients with warfarin resistance, the mutation of g -1639G > A was also found, and the gene polymorphism was found in 4 cases (25%), AG, 7 cases, 67%), GG, 1 case (8%). Conclusion: the mutation of g.-1639G > A in Han population is very high, but the wild homozygote is rare, which can explain that the Han population is generally sensitive to warfarin. The presence of non-G 1639G > A mutant homozygotes (1 GG and 7 AG) in 12 warfarin resistant Han patients may be one of the reasons for warfarin resistance. Meet the ideal INR standard. Among the 12 warfarin resistant Han patients, 4 had g-1639G > A mutation homozygote (AA type), which was related to other factors.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：R394
本文编号：2404299
[Abstract]:Objective: to investigate the relationship between VKORC1 promoter gene polymorphism and warfarin oral dose in Han population. Methods: 100 random patients and 12 patients with warfarin resistance were selected from 6 years after valvular replacement in our hospital. The peripheral blood of the patients was extracted and the gDNA, was amplified by PCR with the relevant primers. The amplified fragments were identified by gel electrophoresis, and the ABI3100 sequence of the VKORC1 promoter was analyzed to obtain the distribution of VKORC1 gene polymorphism in the above two groups. Results: only the mutation of g.-1639G > A was found in 100 random sampling patients. The gene polymorphism was found in 87 cases (87%) of), AG type (13 cases) (13% of), GG type 0 cases (0%). In 12 patients with warfarin resistance, the mutation of g -1639G > A was also found, and the gene polymorphism was found in 4 cases (25%), AG, 7 cases, 67%), GG, 1 case (8%). Conclusion: the mutation of g.-1639G > A in Han population is very high, but the wild homozygote is rare, which can explain that the Han population is generally sensitive to warfarin. The presence of non-G 1639G > A mutant homozygotes (1 GG and 7 AG) in 12 warfarin resistant Han patients may be one of the reasons for warfarin resistance. Meet the ideal INR standard. Among the 12 warfarin resistant Han patients, 4 had g-1639G > A mutation homozygote (AA type), which was related to other factors.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：R394
【参考文献】
相关期刊论文 前1条
1 周国华;单核苷酸多态性(SNP)与个体化用药[J];中国药学杂志;2004年02期
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